Development Flashcards
4 areas of development?
- Gross motor
- Fine motor
- Speech and language
- Social and emotional
Global developmental delay meaning?
Global developmental delay refers to a delay in 2 or more of the above areas simultaneously
3 aspects of a childs development that may concern you?
- Disparity in progresss between areas of the body e.g. right side and left or lower and upper limbs
- Disparity between domains of development
- Regression – loss of previously attained skills
How do you judge development in a premature child?
- Judge development of a premature child differently – if a child is born 2 months early and is 6 months old you only expect them to be at the stage of a 4 month old
Some red flags for development? (8)
1) Asymmetry for movement
2) No social smile (usually developed by 6 weeks)
3) Not reaching for objects by 6 months
4) Unable to sit unsupported by 12 months
5) Unable to walk by 18 months (MUST check CK)
6) No speech at all by 18 months
7) Concerns re vision or hearing
8) Loss of skills
List some causes of developmental delay?
- Specific motor – cerebral palsy, Duchenne muscular dystrophy, Spinal muscular atrophy
- Global – HIE, traumatic brain injury, cerebral haemorrhage, congenital infections, meningitis, encephalitis, down syndrome, autism, phenylketonuria
- Specific social delay – autism
- Specific speech and language – hearing and/ or visual impairments
Isolated motor delay in a boy?
duchennes muscular dystrophy concern
Isolated speech and language delay?
often due to hearing impairment
Investigations and management for developmental delay?
- FBCs and check for iron, folate and B12 deficiency, U and Es
- Creatinine kinase for Duchennes
- Thyroid function test (?congenital hypothyroidism)
- LFTs for metabolic disorders
- Vitamin D
- Hearing test
- Any child with developmental dealy should be referred to paeds, only a few causes of delay are reversible most will result in chronic morbidity with the child requiring specialist support for years
Explain what the muscular dystrophies are and there pathogenesis?
- Group of genetic disorders that causes progressive muscle wasting and weakness
- Problem with muscle itself not the nerves
- The main 2 are Duchennes and Beckers
- Mutuation is in the dystrophin gene that codes for dystrophin proteins that connect actin filaments to the cell membrane and ECM – Duchennes is more severe where there is complete loss of the dystrophin protein whereas in Beckers the dystrophin protein is misshapen
- It is a recessive X-linked disorder, this means females tend not to be affected due to X-inactivation however occasionally can get some symptoms (if by chance more of their healthy X chromosomes are inactivated), but generally females are only carriers
- 1/3 are caused by spontaneous mutations and 2/3 it is passed from the mother
Difference between Duchennes and Beckers?
Duchenne = complete loss of protein, presents age 2-5 yo, die in 20s
Beckers = misshapen protein, presents between 10 and 20, die in 40s
Presentation of muscular dystrophies?
Duchennes will present by age 5, Beckers presents later usually around 10-20 yo – will present with similar symptoms
Signs of Duchennes in a child:
* Specific motor delay
* Boy not walking by 18 months is a red flag for this conditions
* Gower’s sign – puts their hands down to push themselves up
* Toe walking
* Exaggerated lumbar lordosis
* Calf pseudohypertrophy – big looking calves not from muscle but fat and fibrosis
Gowers sign?
sign of duchennes muscular dystrophy - boy puts their hands down to push themselves up
Investigations for muscular dystrophies?
- Initial screening for raised CK
- Official diagnosis is with genetic testing
Management and prognosis of muscular dystrophies?
- There is no curative treatment and boys with Duchennes are usually severely disabled by age 10 and ultimately die sometime in their 20s (generally from respiratory failure or dilated cardiomyopathy as proteins in the heart can also be affected)
- Those with Beckers generally live till at least 30 and mean age of death is in the 40s
- Sometimes steroids delay progression
- Physiotherapy can help prevent contractures in later stages
